Canonical Allele Identifier: CA452969902

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461202T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140067T>C , CM000668.2:g.152140067T>C	GRCh38
NC_000006.11:g.152461202T>C , CM000668.1:g.152461202T>C	GRCh37
NC_000006.10:g.152502895T>C	NCBI36
NG_012855.1:g.502333A>G
NG_012855.2:g.502333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1875A>G MANE Plus Clinical	ENSP00000346701.4:p.Ser625=
ENST00000367255.10:c.25341A>G MANE Select	ENSP00000356224.5:p.Ser8447=
ENST00000423061.6:c.25197A>G	ENSP00000396024.1:p.Ser8399=
ENST00000672154.1:c.743A>G
ENST00000672169.1:c.1076A>G
ENST00000673173.1:c.985A>G
ENST00000673451.1:c.1113A>G	ENSP00000500189.1:p.Ser371=
ENST00000341594.9:c.24126A>G	ENSP00000341887.6:p.Ser8042=
ENST00000347037.9:n.2089A>G
ENST00000354674.4:c.1875A>G	ENSP00000346701.4:p.Ser625=
ENST00000367251.7:c.4176A>G	ENSP00000356220.3:p.Ser1392=
ENST00000367255.9:c.25341A>G	ENSP00000356224.5:p.Ser8447=
ENST00000367256.9:n.9033A>G
ENST00000367257.8:c.3279A>G	ENSP00000356226.4:p.Ser1093=
ENST00000409694.6:n.8925A>G
ENST00000423061.5:c.25197A>G	ENSP00000396024.1:p.Ser8399=
ENST00000460912.6:n.1955A>G
ENST00000478916.5:n.4363A>G
ENST00000536990.5:n.2178A>G
ENST00000539504.5:c.1806A>G	ENSP00000441052.1:p.Ser602=
NM_033071.3:c.25197A>G	NP_149062.1:p.Ser8399=
NM_182961.3:c.25341A>G	NP_892006.3:p.Ser8447=
XM_006715407.1:c.25446A>G	XP_006715470.1:p.Ser8482=
XM_006715408.1:c.25434A>G	XP_006715471.1:p.Ser8478=
XM_006715409.1:c.25425A>G	XP_006715472.1:p.Ser8475=
XM_006715410.1:c.25446A>G	XP_006715473.1:p.Ser8482=
XM_006715411.1:c.25395A>G	XP_006715474.1:p.Ser8465=
XM_006715412.1:c.25431A>G	XP_006715475.1:p.Ser8477=
XM_006715413.1:c.25377A>G	XP_006715476.1:p.Ser8459=
XM_006715414.1:c.25374A>G	XP_006715477.1:p.Ser8458=
XM_006715415.1:c.25377A>G	XP_006715478.1:p.Ser8459=
XM_006715416.1:c.25362A>G	XP_006715479.1:p.Ser8454=
XM_006715417.1:c.25305A>G	XP_006715480.1:p.Ser8435=
XM_006715420.1:c.25293A>G	XP_006715483.1:p.Ser8431=
XM_006715421.1:c.25290A>G	XP_006715484.1:p.Ser8430=
XM_006715422.1:c.25287A>G	XP_006715485.1:p.Ser8429=
XM_006715423.1:c.25446A>G	XP_006715486.1:p.Ser8482=
XM_006715424.1:c.25446A>G	XP_006715487.1:p.Ser8482=
XM_006715425.1:c.25377A>G	XP_006715488.1:p.Ser8459=
XM_011535641.1:c.25443A>G	XP_011533943.1:p.Ser8481=
XM_011535642.1:c.25431A>G	XP_011533944.1:p.Ser8477=
XM_011535643.1:c.25281A>G	XP_011533945.1:p.Ser8427=
XM_011535644.1:c.23721A>G	XP_011533946.1:p.Ser7907=
XM_011535645.1:c.23214A>G	XP_011533947.1:p.Ser7738=
XM_011535647.1:c.18681A>G	XP_011533949.1:p.Ser6227=
NM_001347701.1:c.1947A>G	NP_001334630.1:p.Ser649=
NM_001347702.1:c.1875A>G	NP_001334631.1:p.Ser625=
XM_006715408.2:c.25434A>G	XP_006715471.1:p.Ser8478=
XM_006715410.2:c.25446A>G	XP_006715473.1:p.Ser8482=
XM_006715412.2:c.25431A>G	XP_006715475.1:p.Ser8477=
XM_006715413.2:c.25377A>G	XP_006715476.1:p.Ser8459=
XM_006715415.2:c.25377A>G	XP_006715478.1:p.Ser8459=
XM_006715416.2:c.25362A>G	XP_006715479.1:p.Ser8454=
XM_006715417.2:c.25305A>G	XP_006715480.1:p.Ser8435=
XM_006715420.2:c.25293A>G	XP_006715483.1:p.Ser8431=
XM_006715421.2:c.25290A>G	XP_006715484.1:p.Ser8430=
XM_006715423.2:c.25446A>G	XP_006715486.1:p.Ser8482=
XM_006715424.2:c.25446A>G	XP_006715487.1:p.Ser8482=
XM_006715425.2:c.25377A>G	XP_006715488.1:p.Ser8459=
XM_011535641.2:c.25443A>G	XP_011533943.1:p.Ser8481=
XM_011535642.2:c.25431A>G	XP_011533944.1:p.Ser8477=
XM_011535645.2:c.23214A>G	XP_011533947.1:p.Ser7738=
XM_017010608.1:c.25446A>G	XP_016866097.1:p.Ser8482=
XM_017010609.1:c.25446A>G	XP_016866098.1:p.Ser8482=
XM_017010610.1:c.25425A>G	XP_016866099.1:p.Ser8475=
XM_017010611.2:c.25419A>G	XP_016866100.1:p.Ser8473=
XM_017010612.1:c.25368A>G	XP_016866101.1:p.Ser8456=
XM_017010613.1:c.25374A>G	XP_016866102.1:p.Ser8458=
XM_017010614.1:c.25290A>G	XP_016866103.1:p.Ser8430=
XM_017010615.1:c.25221A>G	XP_016866104.1:p.Ser8407=
XM_017010616.1:c.25377A>G	XP_016866105.1:p.Ser8459=
XM_017010617.1:c.25374A>G	XP_016866106.1:p.Ser8458=
XM_017010618.1:c.25362A>G	XP_016866107.1:p.Ser8454=
XM_017010619.1:c.23721A>G	XP_016866108.1:p.Ser7907=
NM_182961.4:c.25341A>G MANE Select	NP_892006.3:p.Ser8447=
NM_001347701.2:c.1947A>G	NP_001334630.1:p.Ser649=
NM_001347702.2:c.1875A>G MANE Plus Clinical	NP_001334631.1:p.Ser625=
NM_033071.5:c.25197A>G	NP_149062.2:p.Ser8399=